News Analysis The use of genetic tests by insurance companies has been sanctioned by an Australian government inquiry - despite widespread belief among genetics experts that the science behind the tests is too uncertain.

In May 2003, the Australian government released a 1,200-page report, resulting from a two-year joint inquiry by the Australian Law Reform Commission and the Australian Health Ethics Commission.

It had been established to review the use of genetic testing, including its use by insurers to assess risk and set premiums - a practice not prohibited under existing law, but which had raised concerns in many circles.

The inquiry found in favour of the industry, endorsing the use of the technology. This was despite calls by human genetics experts to set a moratorium on genetic tests until the science was better understood and there was better evidence behind them, as Britain has done.

Recognising the problem of evidence, the report recommended the formation of a Human Genetics Commission of Australia (HGCA), which would ensure that genetic tests would only be used in a "scientifically reliable and actuarially sound manner".

Even if the government takes up the report's recommendations and the HGCA is formed, scientists and insurers are at loggerheads over what should happen in the meantime. A spokeswoman for the Australian Attorney-General Daryl Williams told ABC Science Online that the 144 recommendations of the report are still being considered - including the establishment of the HGCA.

Nevertheless, the life insurance industry is pleased the inquiry accepted its argument that the use of genetic tests is essential to its viability: "As life insurance is voluntary, we have to involve ourselves in proper screening of new clients otherwise you end up with a sample that's skewed and that affects pricing quite adversely," says Richard Gilbert, chief executive of the country's life insurance industry peak body, the Investment and Financial Services Association (IFSA).

He emphasises insurers are not requiring people to have genetic tests, only asking that they reveal the results of any tests already done.

Associate Professor Eric Haan, a clinical geneticist and the president of the Human Genetics Society of Australasia, however, thinks differently: "We seek a moratorium until the establishment of the Human Genetics Commission in Australia," he says. "Genetic test results should only be used with adequate actuarial data and we suspect these are not available for most tests."

Haan told ABC Science Online his organisation was concerned that the routine use of tests by insurers might discourage people from having tests that might otherwise give them peace of mind, or prompt them to have regular screening and take preventative action.

And he rejects the argument that the viability of the A$180 billion industry in Australia would be affected by the moratorium, given the small number of insurance applications involving genetic tests: "Even taking into account high risk genes - those which have lead to a high probability of developing the disease - the insurance industry will still be viable," he says.

Genetic counsellor, Dr Kristine Barlow-Stewart, who heads the Centre for Genetic Education, in Sydney agrees: "We're still learning about the science of these tests and it's too early to use them in insurance," she says.

Both Haan and Barlow-Stewart were members of the expert committee that advised the national inquiry.

In Britain, the Genetics and Insurance Committee (GAIC) - an advisory public body funded by the government but operating independently - was formed to supervise genetic tests: both their scientific validity and the methodology used by insurance companies to set premiums.

So far, GAIC has only approved the use of tests for Huntington's disease, and only where the life insurance policy is worth more than £500,000. Widespread public concern that the use of genetic tests by insurance companies would create a 'genetic underclass' - people discriminated against because of their genes - led to a five-year moratorium on the use of any tests not approved of by the GAIC.

What tests are being used and how?

Currently, Australians taking out insurance are required to provide the results of genetic tests. In the two years to November 2002, only 235 applications for insurance declared genetic test results (see table), according to information provided by IFSA to the inquiry.

Test results for a total of 18 conditions were provided, including 170 tests for the iron overload disorder, haemachromatosis - refundable under Australia's national health care system, Medicare. Another 22 were for Huntington's Disease, 10 for breast cancer and eight for cystic fibrosis. Genetic testing is only available for some of the estimated 10,000 genetic disorders.

Gilbert confirmed that the test results provided would have been used in assessing risk of insurance applicants, but emphasises this would only be done in combination with family history, age, and other medical or lifestyle factors: "A genetic test is one piece of a jigsaw that is put together in assessing a person's insurance risk," he told ABC Science Online.

The rub is that for a genetic test result to be used in assessing insurance risk, it should translate into a specific numerical increase in risk - not a broad range as is often the case at present.

Genetic test results in insurance applications.30 November 2000 to 30 November 2002

Genetic test

Applications

Hereditary Haemochromatosis

170

Huntington's Disease

22

Breast Cancer

10

Cystic Fibrosis

8

Factor V Leiden

5

Myotonic dystrophy

4

Familial Adenomatous Polyposis

3

Colorectal Cancer

2

Polycystic Kidney Disease

2

Marfans Syndrome

1

Non Polyposis Colorectal Cancer

1

Multiple Endocrine Neoplasia

1

Charco-Marie-Tooth Disease

1

Prothrombin gene mutation

1

Epidermolysis Bullosa

1

Tay Sachs Disease

1

Spinocerebellar ataxia

1

Tuberous Sclerosis Complex

1

Total applications

235

Source: Institute of Actuaries of Australia and IFSA (Fig. 25-1 of the ALRC report - see link)

Conventional risk assessment draws on actuarial data - information collected by insurance companies on actual deaths and disabilities due to various conditions. Where there are no statistics available - as is the case with disorders diagnosed by predictive genetic tests - insurers must rely on scientific studies. However, actuaries acknowledge that here, the evidence is open to interpretation.

"There are no actuarial statistics [for genetic tests], there is only an actuarial interpretation of the medical research data," says Alan Doble, an actuary with the Australian unit of reinsurance giant Munich RE and spokesman for the Australian Institute of Actuaries.

Genetics experts Haan and Barlow-Stewart agree, and believe we are still in the early days of the technology: scientists still don't fully understand the relationship between most genetic defects and disease.

For example, the number of people who will go on to develop breast cancer as a result of having a particular genetic mutation linked to the disease has been repeatedly revised downwards, and has become less certain since the association was first discovered. The only genetic tests most scientists consider to based on a firm data are those for Huntington's and an inherited bowel cancer called familial adenamotous polyposis.

"The science is changing, and that's why I think it's too early to be using these tests," Barlow-Stewart told ABC Science Online. "The Centre for Genetic Education supports a moratorium until such time as the science develops, so the actuarial models can be done on which the underwriting is based."

Munich RE's Doble, who heads an Institute of Actuaries of Australia task force on genetics, dismissed the suggestion that there is not enough scientific foundation to use genetic tests: "If there's no evidence that they are related to disease, then why are people doing the tests anyway?

"There's enough evidence to decide whether the person is at substantially higher risk of a claim arising from that particular cause, and that's enough to decide on whether or not to add an extra premium." Doble says. "Just as if you smoke you've got a higher probability of getting lung cancer."

"The figures I've seen suggest that if you've got the positive test for BRCA1 or BRCA2 [genes linked to breast cancer], you're up to five times more likely ... to develop breast cancer as someone who doesn't have it, and that seems like a significant difference to me," Doble told ABC Science Online.

But genetic expert Barlow-Stewart says that it is not yet possible to put a fixed number on the increased risk of breast cancer - which is why genetic tests for breast cancer have not been accepted by Britain's GAIC for use by the insurance industry in assessing risk.

"The science is changing, and that's why I think it's too early to be using these tests."

Dr Kristine Barlow-StewartCentre for Genetic Education

Risk estimates for the BRCA1 or BRCA2 genes have been revised downwards from 80% to between 40% and 60% since their discovery, and some studies have brought the risk down to 30%. "This is because the initial research was done on high risk families," says Barlow-Stewart.

Doble acknowledges the science is changing, but believes the insurance industry will always seek out the best medical advice. IFSA's Gilbert agrees: "The industry has been very careful to only use information which is reliable and valid in predicting the likelihood of claims."

However, Gilbert would not be drawn on the question of which genetic tests specifically were backed by sufficient scientific evidence, describing it as a "competition issue".

"Scientific reliability and actuarial relevance is a matter for each company," Gilbert told ABC Science Online. "Some companies may rate some factors more than others because they have medical evidence that is superior or inferior to another company." He agrees that under the HGCA - if it is established by the government as recommended by the report - this would be standardised.

Gilbert ultimately justifies the insurance industry's position on the basis that an 'independent umpire' - in the form of a government inquiry - condoned the industry's current practice, even in the absence of an HGCA: "The inquiry didn't send up a big red flag saying you have to stop what you're doing now," he says.

However Haan argues the inquiry was not in a position to know whether the insurance industry was using genetic tests appropriately.

In a February 2001, 48 reported cases of people being discriminated against purely on the basis of genetic test results in Australia were documented in the Journal of Law and Medicine by Barlow-Stewart and a graduate student at the University of Melbourne, David Keays. Additional cases were noted by Keays in the inquiry's report. Barlow-Stewart is currently co-ordinating a research project to determine whether such cases stand up under closer scrutiny.

All agree that the sooner the HGCA is formed, the better, as a lot of the ambiguity in the use of genetic tests will be removed.

IFSA's Gilbert argues that this should be in the government's short to immediate time-frame. Haan and Barlow-Stewart says the HGCA is urgently needed to deal with the problem of evolving science: "We have no forum to discuss these issues without it," says Barlow-Stewart.

The human face to the controversy

The reported cases of discrimination documented by Barlow-Stewart and Keays include the case of 'Jim' who was a fit and health man in his early 50s. A blood test in an annual check-up showed he had slightly increased levels of iron in his blood. His local GP suggested he have a test for the gene linked to the iron overload disorder, haemachromatosis.

Jim was found to have two copies of the gene, and so immediately started donating blood - the best-known preventative treatment. But he was then refused insurance, even though his iron levels had returned to normal.

Nevertheless, insurers point to the case of haemochromatosis gene testing as a positive example of the use of genetic tests in insurance: irreversible damage from too much iron in the blood can be prevented if people are diagnosed early enough, before their iron levels get too high. Under some arrangements, people who test positive for the haemachromatosis gene can avoid being charged a higher premium for insurance if they donate blood - although this does not always apply.

It's a "good news story," argues Gilbert, because the preventative treatment of blood donation provides a further benefit to society - not just to the insurance industry.

The case of haemochromatosis points to a vision put forward by those who advocate a brave new future where 'genetic profiling' at birth enables people to take preventative action to counter disease predispositions programmed into their genes.

But where might taking preventative action lead us when the predictive power of genetic tests is uncertain?

Even for the genetic tests approved of for use in Britain, there are issues. Barlow-Stewart argues that while the insurance industry does not require people to take genetic tests directly, "subtle pressure" does exist.

For example, if someone has a parent with the gene for Huntington's, they would be labelled as having a 50% chance of developing the condition based on family history alone. If they took the test and got a negative result, they might be able to reduce their risk to zero - and therefore decrease their premiums. It's a double-edged sword, however, because they could also make themselves uninsurable if they got a positive result, Barlow-Stewart says.

She emphasises people should not take the test just so they can get insurance. Only 20% of people who are at risk for Huntington's because of family history actually take the test, because they prefer to live with the uncertainty of developing the disease: "People should look at the wider consequences of knowing for sure. Whether you're 100% or 50% can affect your whole life. Once you get the result, you can't give it back," she says.

The predictive power of genetic testing influences the decision of individuals as well as insurers - even if the reliability of the tests may be in doubt. One woman with a family history of breast cancer, who tested positive for the gene, has decided to undergo a mastectomy - even though she has no sign of the disease. She told ABC Science Online that a number of other women have made the same decision after genetic testing.